dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.9332936A>T , CM000686.2:g.9332936A>T | GRCh38 |
| NC_000024.9:g.9170545A>T , CM000686.1:g.9170545A>T | GRCh37 |
| NC_000024.8:g.9230545A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_001546.1:n.82+1815T>A |